ZANETTI, ALESSANDRA
ZANETTI, ALESSANDRA
A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus
2014 Zanetti, Alessandra; Tomanin, Rosella; Rampazzo, Angelica; Rigon, Chiara; Gasparotto, Nicoletta; Cassina, Matteo; Clementi, Maurizio; Scarpa, Maurizio
Brain RNA-seq profiling of the mucopolysaccharidosis type II mouse model
2017 Salvalaio, Marika; D’Avanzo, Francesca; Rigon, Laura; Zanetti, Alessandra; D’Angelo, Michela; Valle, Giorgio; Scarpa, Maurizio; Tomanin, Rosella
Caratterizzazione molecolare delle variazioni di sequenza del gene hIDS in pazienti affetti da sindrome di Hunter
2008 Zanetti, Alessandra
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
2013 Mazzoccoli, G; Tomanin, Rosella; Mazza, T; D'Avanzo, Francesca; Salvalaio, Marika; Rigon, Laura; Zanetti, Alessandra; Pazienza, V; Francavilla, M; Giuliani, F; Vinciguerra, M; Scarpa, Maurizio
Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years
2014 Tomanin, Rosella; Zanetti, Alessandra; D'Avanzo, Francesca; Rampazzo, Angelica; Gasparotto, Nicoletta; Rossella, Parini; Antonia, Pascarella; Daniela, Concolino; Elena, Procopio; Agata, Fiumara; Borgo, Andrea; Frigo, ANNA CHIARA; Scarpa, Maurizio
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.
2012 Tomanin, Rosella; Zanetti, Alessandra; Zaccariotto, E; D'Avanzo, Francesca; Bellettato, Cm; Scarpa, Maurizio
Gene therapy of Hunter syndrome: Evaluation of the efficiency of muscle electro genetransfer for the production and release of recombinant iduronate-2-sulfatase (IDS)
2008 Friso, Adelaide; Tomanin, Rosella; Zanetti, Alessandra; C., Mennuni; F., Calvaruso; N., LA MONICA; Marin, Oriano; Zacchello, Franco; Scarpa, Maurizio
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy
2022 Maccari, F.; Rigon, L.; Mantovani, V.; Galeotti, F.; Salvalaio, M.; D'Avanzo, F.; Zanetti, A.; Capitani, F.; Gabrielli, O.; Tomanin, R.; Volpi, N.
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study
2019 Zanetti, A.; D'Avanzo, F.; Rigon, L.; Rampazzo, A.; Concolino, D.; Barone, R.; Volpi, N.; Santoro, L.; Lualdi, S.; Bertola, F.; Scarpa, M.; Tomanin, R.
Mucopolysaccharidosis type II: One hundred years of research, diagnosis, and treatment
2020 Dʹavanzo, F.; Rigon, L.; Zanetti, A.; Tomanin, R.
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization
2017 Bertoldi, Loris; Forcato, Claudio; Vitulo, Nicola; Birolo, Giovanni; DE PASCALE, Fabio; Feltrin, Erika; Schiavon, Riccardo; Anglani, Franca; Negrisolo, Susanna; Zanetti, Alessandra; D'Avanzo, Francesca; Tomanin, Rosella; Faulkner, Georgine; Vezzi, Alessandro; Valle, Giorgio
RNA-seq Transcriptome Profiling Of Primary Hunter Cells Following Treatment With Recombinant IDS As A First Step For Identification Of ERT Efficacy Markers
2011 Scarpa, Maurizio; Zanetti, Alessandra; D'Avanzo, Francesca; Salvalaio, Marika; Rigon, Laura; Albiero, A; Campanaro, Stefano; Valle, Giorgio; Tomanin, Rosella
Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G > A (p.S384N) as to be a polymorphism
2009 Zanetti, Alessandra; Ferraresi, E; Picci, L; Filocamo, M; Parini, R; Rosano, C; Tomanin, R; Scarpa, Maurizio
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders
2020 Zanetti, A.; D'Avanzo, F.; Bertoldi, L.; Zampieri, G.; Feltrin, E.; De Pascale, F.; Rampazzo, A.; Forzan, M.; Valle, G.; Tomanin, R.